ArticleCirculation. Genomic and precision medicine2020
Genetic Diagnosis and the Severity of Cardiovascular Phenotype in Patients With Elastin Arteriopathy.
Article in Circulation. Genomic and precision medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 24 citations in OpenAlex.
- Case Report: Prenatal clues and postnatal evolution: a case of williams syndrome diagnosed following progressive cardiovascular phenotypes.Frontiers in pediatrics · 2026Article
- Case Report: Newly discovered ELN gene mutation in congenital heart disease: case analysis and review.Frontiers in pediatrics · 2026Article
- A Del(5PNAS nexus · 2025Article
- The Expanding Genetic Architecture of Arteriopathies: From Canonical TAAD Genes to Emerging Connective Tissue and Signaling Pathways.Medical sciences (Basel, Switzerland) · 2025Review
- Article
- Hypertrophic cardiomyopathy occurred after successful surgical correction of supravalvular aortic stenosis: a case report of Williams-Beuren syndrome.Frontiers in pediatrics · 2025Article
- Polygenicity in a box: Copy number variants, neural circuit development, and neurodevelopmental disorders.Current opinion in neurobiology · 2024Review
- APOE-NOTCH axis governs elastogenesis during human cardiac valve remodeling.Nature cardiovascular research · 2024Article
- Genetic Testing for Supravalvar Aortic Stenosis: What to Do When It Is Not Williams Syndrome.Journal of the American Heart Association · 2024Article
- Identification and characterization of novel elastin gene mutations in eleven families with supravalvular aortic stenosis.Frontiers in genetics · 2022Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundElastin insufficiency causes recurrent vascular stenoses. Hemizygous deletion of the elastin gene (
methodsPatients (81 WBS, 42 nonsyndromic SVAS) with cardiovascular disease were included in this retrospective single center study. Freedom from surgical and catheter interventions and reinterventions was compared. Vascular tissue from 8 patients and 6 controls was analyzed for arterial wall architecture.
resultsPatients with nonsyndromic SVAS presented at a younger age (median 0.3 [0.4-0.7] years) compared with patients with WBS (1.3 [0.2-3.0] years) and had lower freedom from surgical/catheter interventions compared with patients with WBS, with median event-free survival 1.1 (0.3-5.9) versus 4.7 (2.4-13.3) years, respectively (hazard ratio, 1.62 [95% CI, 1.02-2.56];
conclusionsPatients with nonsyndromic SVAS require early and more frequent vascular and valvular interventions and reinterventions, in particular for concomitant valvar aortic stenosis compared with patients with WBS. This provides important prognostic information to guide counseling of affected families with cardiovascular disease and may guide primary intervention strategies based on predicted risk of restenosis.
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